【摘要】 45,X/47,XYY性发育异常是一种由于罕见的染色体异常导致的性发育异常疾病。报告1例收治的45,X/47,XYY嵌合型性发育异常患者，该患者主因原发性闭经并出现男性化表现就诊，具有特纳综合征（Turner syndrome,Turner综合征）的表现，腹腔镜探查显示一侧性腺为条索状，另一侧外观睾丸样，病理为卵睾型性腺，手术切除双侧附件并予人工周期治疗，有月经来潮。结合本例及检索到的文献报道的女性表型中因原发性闭经就诊的病例共11例，对该病的临床表现、诊断及治疗方式进行总结。女性表型45,X/47,XYY性发育异常患者临床表现多样，以Turner综合征表现合并男性化表现多见，应尽早发现并切除发育不良的性腺，防止性腺肿瘤的发生和男性化表现出现。术后进行长期激素替代治疗，同时注重患者精神心理的疏导。更多还原

【Abstract】 45,X/47,XYY sexual dysplasia is a disorder of abnormal sexual development due to a rare chromosomal abnormality. We report a case of 45,X/47,XYY mosaicism disorders of sex. The patient presented with primary amenorrhea and masculinization, as well as Turner syndrome. Laparoscopic exploration showed gonadal type for one side the cord-like gonads, one side the ovoid structure. The pathological condition was cryptorchidism type gonadal gland. Bilateral appendages were surgically removed, artificial cycle therapy was given, and then the patient had menstruation. In this paper, we summarized a total of 11 cases, including this case and other ten cases with the female phenotype reported in the literature, seeing a doctor for primary amenorrhea were found. The clinical manifestations, diagnosis and treatment of this disease were summarized as follows: women with phenotype 45,X/47,XYY sexual dysplasia have various clinical manifestations, most of which are Turner syndrome combined with masculinization. It should be early detection and removal of dysplasia gonads, to prevent the occurrence of gonadal tumors and masculine effects. Long-term alternative hormone therapy and psychological counseling should be performed after surgery.更多还原